{"id":"W2325025380","doi":"10.1017/s0317167100016334","title":"Novel <i>SACS</i> Mutation Deviates from the French Canadian ARSACS Phenotype","year":2014,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; University of Alberta","funders":"University of Toronto; Université de Montréal; Genome British Columbia; University of Ottawa; Ontario Genomics Institute; Canadian Institutes of Health Research; Genome Canada; Government of Canada; McGill University","keywords":"Phenotype; Mutation; Action (physics); Medicine; Genetics; Biology; Gene; Physics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002945553,0.002113736,0.0009520407,0.002035968,0.002318251,0.00131418,0.001216615,0.003272889,0.01802923],"category_scores_gemma":[0.001831217,0.0002829225,0.001210039,0.001680658,0.002267646,0.0004412914,0.0007009777,0.00192322,0.002641599],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002563017,"about_ca_system_score_gemma":0.004792069,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2737758,"about_ca_topic_score_gemma":0.2213355,"domain_scores_codex":[0.9993755,0.00003752393,0.00003571295,0.0001519045,0.0002648972,0.0001344146],"domain_scores_gemma":[0.998827,0.0004636636,0.0001628763,0.00006055072,0.0001439444,0.0003418844],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006433744,0.0001169209,0.01227499,0.0002140871,0.0001545345,0.8623201,0.00171269,0.001649995,0.06675367,0.01090293,0.02227867,0.02097799],"study_design_scores_gemma":[0.0001928794,0.0001664057,0.06890602,0.0003087269,0.0003107249,0.8372227,0.001219998,0.002593783,0.01962567,0.002980515,0.06621505,0.0002575578],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.870102,0.003086681,0.007450837,0.009995385,0.002604512,0.0002080007,0.01022404,0.001762825,0.09456565],"genre_scores_gemma":[0.971401,0.001017868,0.004715763,0.001263351,0.0004224839,0.00003152747,0.00174042,0.000351412,0.01905619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7262242,"threshold_uncertainty_score":0.5443645,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01627107252722017,"score_gpt":0.2269414451179336,"score_spread":0.2106703725907134,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}